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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
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    1. ClingenBaseline 23 Oct 2026

      PatientID: V80

      KindredID: V80

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with VHL Type 2B.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L140Qfs*3 (c.419_420del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357039, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.419_420del

      gnomAD: N/A

      VariantEvidence: Reported as c.417del2 and mapped to c.419_420del.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: L140fs (c.419_420del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:419 ProteinPosition:140 AminoAcidChange:LEUtoGLN ClinVarID:N/A CAID:CA357039 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:L140fs(c.419_420del) NoFamilyInfo Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/